TMPRSS3 Gene Variants With Implications for Auditory Treatment and Counseling

Objective: To identify and report novel variants in the TMPRSS3 gene and their clinical manifestations related to hearing loss as well as intervention outcomes. This information will be helpful for genetic counseling and treatment planning for these patients.Methods: Literature review of previously...

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Autores principales:	In Seok Moon, Andrew R. Grant, Varun Sagi, Heidi L. Rehm, Konstantina M. Stankovic
Formato:	article
Lenguaje:	EN
Publicado:	Frontiers Media S.A. 2021
Materias:	TMPRSS3 cochlear implantation sensorineural hearing loss genetic counseling hereditary hearing loss Genetics QH426-470
Acceso en línea:	https://doaj.org/article/60d3ab31f1e84ba7ba640aa84a239115
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spelling	oai:doaj.org-article:60d3ab31f1e84ba7ba640aa84a2391152021-11-19T06:17:00ZTMPRSS3 Gene Variants With Implications for Auditory Treatment and Counseling1664-802110.3389/fgene.2021.780874https://doaj.org/article/60d3ab31f1e84ba7ba640aa84a2391152021-11-01T00:00:00Zhttps://www.frontiersin.org/articles/10.3389/fgene.2021.780874/fullhttps://doaj.org/toc/1664-8021Objective: To identify and report novel variants in the TMPRSS3 gene and their clinical manifestations related to hearing loss as well as intervention outcomes. This information will be helpful for genetic counseling and treatment planning for these patients.Methods: Literature review of previously reported TMPRSS3 variants was conducted. Reported variants and associated clinical information was compiled. Additionally, cohort data from 18 patients, and their families, with a positive result for TMPRSS3-associated hearing loss were analyzed. Genetic testing included sequencing and copy number variation (CNV) analysis of TMPRSS3 and the Laboratory for Molecular Medicine’s OtoGenome-v1, -v2, or -v3 panels. Clinical data regarding patient hearing rehabilitation was interpreted along with their genetic testing results and in the context of previously reported cochlear implant outcomes in individuals with TMPRSS3 variants.Results: There have been 87 previously reported TMPRSS3 variants associated with non-syndromic hearing loss in more than 20 ancestral groups worldwide. Here we report occurrences of known variants as well as one novel variant: deletion of Exons 1–5 and 13 identified from our cohort of 18 patients. The hearing impairment in many of these families was consistent with that of previously reported patients with TMPRSS3 variants (i.e., typical down-sloping audiogram). Four patients from our cohort underwent cochlear implantation.Conclusion: Bi-allelic variants of TMPRSS3 are associated with down-sloping hearing loss regardless of ancestry. The outcome following cochlear implantation in patients with variants of TMPRSS3 is excellent. Therefore, cochlear implantation is strongly recommended for hearing rehabilitation in these patients.In Seok MoonIn Seok MoonAndrew R. GrantAndrew R. GrantVarun SagiVarun SagiHeidi L. RehmHeidi L. RehmKonstantina M. StankovicKonstantina M. StankovicFrontiers Media S.A.articleTMPRSS3cochlear implantationsensorineural hearing lossgenetic counselinghereditary hearing lossGeneticsQH426-470ENFrontiers in Genetics, Vol 12 (2021)
institution	DOAJ
collection	DOAJ
language	EN
topic	TMPRSS3 cochlear implantation sensorineural hearing loss genetic counseling hereditary hearing loss Genetics QH426-470
spellingShingle	TMPRSS3 cochlear implantation sensorineural hearing loss genetic counseling hereditary hearing loss Genetics QH426-470 In Seok Moon In Seok Moon Andrew R. Grant Andrew R. Grant Varun Sagi Varun Sagi Heidi L. Rehm Heidi L. Rehm Konstantina M. Stankovic Konstantina M. Stankovic TMPRSS3 Gene Variants With Implications for Auditory Treatment and Counseling
description	Objective: To identify and report novel variants in the TMPRSS3 gene and their clinical manifestations related to hearing loss as well as intervention outcomes. This information will be helpful for genetic counseling and treatment planning for these patients.Methods: Literature review of previously reported TMPRSS3 variants was conducted. Reported variants and associated clinical information was compiled. Additionally, cohort data from 18 patients, and their families, with a positive result for TMPRSS3-associated hearing loss were analyzed. Genetic testing included sequencing and copy number variation (CNV) analysis of TMPRSS3 and the Laboratory for Molecular Medicine’s OtoGenome-v1, -v2, or -v3 panels. Clinical data regarding patient hearing rehabilitation was interpreted along with their genetic testing results and in the context of previously reported cochlear implant outcomes in individuals with TMPRSS3 variants.Results: There have been 87 previously reported TMPRSS3 variants associated with non-syndromic hearing loss in more than 20 ancestral groups worldwide. Here we report occurrences of known variants as well as one novel variant: deletion of Exons 1–5 and 13 identified from our cohort of 18 patients. The hearing impairment in many of these families was consistent with that of previously reported patients with TMPRSS3 variants (i.e., typical down-sloping audiogram). Four patients from our cohort underwent cochlear implantation.Conclusion: Bi-allelic variants of TMPRSS3 are associated with down-sloping hearing loss regardless of ancestry. The outcome following cochlear implantation in patients with variants of TMPRSS3 is excellent. Therefore, cochlear implantation is strongly recommended for hearing rehabilitation in these patients.
format	article
author	In Seok Moon In Seok Moon Andrew R. Grant Andrew R. Grant Varun Sagi Varun Sagi Heidi L. Rehm Heidi L. Rehm Konstantina M. Stankovic Konstantina M. Stankovic
author_facet	In Seok Moon In Seok Moon Andrew R. Grant Andrew R. Grant Varun Sagi Varun Sagi Heidi L. Rehm Heidi L. Rehm Konstantina M. Stankovic Konstantina M. Stankovic
author_sort	In Seok Moon
title	TMPRSS3 Gene Variants With Implications for Auditory Treatment and Counseling
title_short	TMPRSS3 Gene Variants With Implications for Auditory Treatment and Counseling
title_full	TMPRSS3 Gene Variants With Implications for Auditory Treatment and Counseling
title_fullStr	TMPRSS3 Gene Variants With Implications for Auditory Treatment and Counseling
title_full_unstemmed	TMPRSS3 Gene Variants With Implications for Auditory Treatment and Counseling
title_sort	tmprss3 gene variants with implications for auditory treatment and counseling
publisher	Frontiers Media S.A.
publishDate	2021
url	https://doaj.org/article/60d3ab31f1e84ba7ba640aa84a239115
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TMPRSS3 Gene Variants With Implications for Auditory Treatment and Counseling

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